Status epilepticus (SE) is defined as a seizure that lasts more than 30 minutes. The annual incidence of convulsive SE among children in developed countries is about 20 per 100,000. Researchers identify new genes for severe childhood epilepsies.
In a large international collaborative study of 356 patients with severe epilepsies and their parents, researchers identified 429 new synaptic transmission genes. These mutations were considered causative in 12% of the patients. DNM1, a gene that carries the code for the structural protein dynamin-1, involved in shuttling small vesicles between the body of the neuron and the synapse, was found to be mutated in five patients. In all, 75% of the mutations detected were predicted to disrupt a protein regulating synaptic transmission.